Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis

Genetics in Medicine

Volumn 16, Issue 10, 2014, Pages 783-786

  Shirts, Brian H ^a   Salipante, Stephen J ^a   Casadei, Silvia ^a   Ryan, Shawnia ^b   Martin, Judith ^b   Jacobson, Angela ^a   Vlaskin, Tatyana ^a   Koehler, Karen ^a   Livingston, Robert J ^a   King, Mary Claire ^a,c   Walsh, Tom ^a   Pritchard, Colin C ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b Family Medicine Northpointe   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

complex genomic rearrangement; exonic skipping; familial adenomatous polyposis; inversion

Indexed keywords

ADULT; CASE REPORT; CHROMOSOME 5; CHROMOSOME INVERSION; COLON POLYPOSIS; EXON; FEMALE; FRAMESHIFT MUTATION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; PROCEDURES; TUMOR SUPPRESSOR GENE;

ADENOMATOUS POLYPOSIS COLI; ADULT; BASE SEQUENCE; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 5; EXONS; FEMALE; FRAMESHIFT MUTATION; GENES, APC; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTRONS;

EID: 84991442261     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.30     Document Type: Article

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